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We are in a new era of using genomic information to make critical health care decisions. A proven and trusted partner, the Illumina Clinical Services Laboratory offers a comprehensive portfolio of clinical whole-genome sequencing tests intended to help both diagnose and assess your patients’ risk for certain genetic diseases.

  • With genome-based testing, we can deliver comprehensive answers—accurately and quickly—to many questions about genetic variations and rare diseases.
  • You can make genetically informed decisions personalized to each patient.
  • Flexible service offerings are available, based on medical necessity, with the capability for reanalysis to keep up with the pace of new discoveries.
The Customer Experience
Personalized Medicine Helps Girl Walk Again

Thanks to answers found through genome sequencing, Shelby Valint is now able to walk and talk.

The TruGenome Clinical Sequencing Services offer comprehensive evaluation of a patient’s genetic information using genome-based testing in the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory.

Services available include:

  • TruGenome Undiagnosed Disease Test
    To assist physicians and their patients to identify the potential underlying cause of a genetic condition
  • TruGenome Predisposition Screen
    For healthy patients interested in learning about their risk for a specific set of adult-onset conditions, assessing their carrier screening status, and understanding their response to certain drugs
  • TruGenome Technical Sequence Data
    For labs or clinical researchers who prefer to perform their clinical evaluation / interpretation for their patients directly

Learn How to Order

The Customer Experience
DNA Sequencing Solves A Medical Mystery
Howard Jacob, Ph.D., Medical College of Wisconsin

Hear how Dr. Jacob saved a child with an undiagnosed disease.

In 2009, Illumina established a CLIA-certified, CAP-accredited clinical laboratory, Illumina Clinical Services Laboratory, for the purpose of offering human whole-genome sequencing services to physicians and genetic counselors. The Illumina Clinical Services Laboratory was the first to generate a personal genome sequence in a clinical laboratory setting.

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TruGenome Clinical Sequencing Services is performed in the Illumina CLIA (Clinical Laboratory Improvements Amendment)-certified and CAP (College of American Pathologists)-accredited Clinical Services Laboratory. The TruGenome Sequence information is generated by licensed personnel using an analytically validated process. Consistent with Laboratory Developed Tests, it has not been cleared or approved by the U.S. Food and Drug Administration.

This genome sequence information can be analyzed to potentially aid physicians in the evaluation of a broad range of health conditions or physiological traits. Patients will not receive medical results, or a diagnosis, or a recommendation for treatment from Illumina. Any results arising from the analysis of genome sequence information that might be deemed medically actionable should be confirmed using alternative testing. If any questions or concerns arise about what is learned through the genome sequence information, patients should contact their physician or a genetic counselor. Currently Illumina does not accept orders for TruGenome Clinical Sequencing Services from New York.

Clinical Genome Sequencing Services

In 2009, we established a CLIA-certified, CAP-accredited laboratory to offer clinical whole-genome sequencing services. The Illumina Clinical Services Laboratory was the first clinical lab to generate a personal whole-genome sequence and remains a leading service provider today.

Through programs like Understand Your Genome, our lab has performed clinical whole-genome sequencing for over 2000 asymptomatic adults, resulting in the world's largest cohort of clinically sequenced individuals. While we have discontinued the TruGenome Predisposition Screen for healthy adults, we continue to offer the TruGenome Undiagnosed Disease Test to assist physicians in identifying the potential underlying cause of a genetic condition.

Medical Genome Initiative

This consortium of leading institutions is working to expand access to clinical whole genome sequencing (cWGS) for the diagnosis of genetic disease.

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Clinical Whole-Genome Sequencing for Rare Disease

The Illumina Clinical Services Laboratory offers the TruGenome Undiagnosed Disease Test, a clinical whole-genome sequencing test for patients with a suspected rare and undiagnosed genetic disease. The lab also supports the iHope Program, which donates clinical genome sequencing tests to help find answers for children facing these types of diseases.

View Clinical Sequencing Services

Sophia's iHope Story
Sophia's iHope Story

Clinical whole-genome sequencing uncovered a de novo mutation, helping Sophia's doctors diagnose her rare condition.

Ordering Clinical Whole-Genome Sequencing Tests

If you are considering clinical whole-genome sequencing for your patients, we strongly encourage you to contact us before ordering. Illumina experts are available to discuss coverage of the targeted genes/regions, additional analysis or support that may be needed, and any other testing needs.

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Genomics 101

Find basic information about the genome and the relationship between genes and inherited disease.

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